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Medical Genetics terms and definitions

类别 Science

8 Terms

Created by: erkaufman

Number of Blossarys: 1

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其中中期染色体都沾上,一个进程排序和按形态、 大小、 臂长度比率和色带图案进行编号。可以执行的样本,血液、 骨髓、 羊水或胎盘组织。用于诊断染色体不平衡 (例如,常染色体显性遗传性的合子,性染色体疾病。 ...

Domain: Medical; 分类: Medical genetics

Niet alle individuen met een mutant genotype zal tonen het mutant fenotype. Voorbeeld: BRCA1 genmutaties niet altijd resulteren in borst- of eierstokkanker.

Domain: Medical; 分类: Medical genetics

One gene contributes to multiple phenotypic effects. Example: PKU causes many seemingly unrelated symptoms, ranging from mental retardation to hair/skin changes.

Domain: Medical; 分类: Medical genetics

Not all individuals with a mutant genotype will show the mutant phenotype. Example: BRCA1 gene mutations do not always result in breast or ovarian cancer.

Domain: Medical; 分类: Medical genetics

Phenotype varies among individuals with the same genotype. Example: 2 patients with neurofibromatosis type 1 (NF1) may have varying disease severity.

Domain: Medical; 分类: Medical genetics

Both alleles contribute to the phenotype in a heterozygote. Example: blood groups A, B, AB.

Domain: Medical; 分类: Medical genetics

Fluorescent DNA or RNA probe binds to specific gene site of interest on chromosomes. Used for specific localization of genes and direct visualization of anomalies (e.g., microdeletions) at molecular ...

Domain: Medical; 分类: Medical genetics

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